ITGAM Gene (Protein Coding)

Integrin Subunit Alpha M

GC16P031919
GIFtS:
47
This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 inte... See more...

Aliases for ITGAM Gene

Aliases for ITGAM Gene

  • Integrin Subunit Alpha M 2 3 5
  • Integrin, Alpha M (Complement Component 3 Receptor 3 Subunit) 2 3
  • Cell Surface Glycoprotein MAC-1 Subunit Alpha 3 4
  • Complement Component 3 Receptor 3 Subunit 2 3
  • CD11 Antigen-Like Family Member B 3 4
  • Leukocyte Adhesion Receptor MO1 3 4
  • Integrin Alpha-M 3 4
  • CR-3 Alpha Chain 3 4
  • CD11B 3 4
  • MAC-1 2 3
  • CR3A 3 4
  • Integrin, Alpha M (Complement Component Receptor 3, Alpha; Also Known As CD11b (P170), Macrophage Antigen Alpha Polypeptide) 2
  • Neutrophil Adherence Receptor Alpha-M Subunit 3
  • Macrophage Antigen Alpha Polypeptide 3
  • Neutrophil Adherence Receptor 4
  • Antigen CD11b (P170) 3
  • CD11b Antigen 4
  • MAC1A 3
  • SLEB6 3
  • ITGAM 5
  • CD11b 2
  • MO1A 3

External Ids for ITGAM Gene

Previous HGNC Symbols for ITGAM Gene

  • CR3A
  • CD11B

Previous GeneCards Identifiers for ITGAM Gene

  • GC16P030449
  • GC16P031767
  • GC16P031268
  • GC16P031307
  • GC16P031168
  • GC16P031271
  • GC16P028833
  • GC16P031306
  • GC16P031326
  • GC16P031335
  • GC16P031420
  • GC16P031272
  • GC16P031290
  • GC16P031550
  • GC16P031686

Summaries for ITGAM Gene

Entrez Gene Summary for ITGAM Gene

  • This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for ITGAM Gene

ITGAM (Integrin Subunit Alpha M) is a Protein Coding gene. Diseases associated with ITGAM include Systemic Lupus Erythematosus 6 and Systemic Lupus Erythematosus. Among its related pathways are Integrin Pathway and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is ITGAX.

UniProtKB/Swiss-Prot Summary for ITGAM Gene

  • Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens (PubMed:9558116, PubMed:20008295). It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration (PubMed:28807980). In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). May regulate phagocytosis-induced apoptosis in extravasated neutrophils (By similarity). May play a role in mast cell development (By similarity). Required with TYROBP/DAP12 in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity).

Gene Wiki entry for ITGAM Gene

Additional gene information for ITGAM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITGAM Gene

Genomics for ITGAM Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ITGAM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGAM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITGAM

Top Transcription factor binding sites by QIAGEN in the ITGAM gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • Lmo2
  • Pax-4a
  • Sp1

Genomic Locations for ITGAM Gene

Latest Assembly
chr16:31,259,967-31,332,892
(GRCh38/hg38)
Size:
72,926 bases
Orientation:
Plus strand

Previous Assembly
chr16:31,271,296-31,344,198
(GRCh37/hg19 by Entrez Gene)
Size:
72,903 bases
Orientation:
Plus strand

chr16:31,271,311-31,344,213
(GRCh37/hg19 by Ensembl)
Size:
72,903 bases
Orientation:
Plus strand

Genomic View for ITGAM Gene

Genes around ITGAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGAM Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ITGAM Gene

Proteins for ITGAM Gene

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  • Protein details for ITGAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11215-ITAM_HUMAN
    Recommended name:
    Integrin alpha-M
    Protein Accession:
    P11215
    Secondary Accessions:
    • Q4VAK0
    • Q4VAK1
    • Q4VAK2

    Protein attributes for ITGAM Gene

    Size:
    1152 amino acids
    Molecular mass:
    127179 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. ITGAM associates with ITGB2. Found in a complex with CD177 and ITGB2/CD18 (PubMed:21193407). Interacts with JAM3 (PubMed:15194813, PubMed:12208882). Interacts with THBD (PubMed:27055590). Interacts with complement factor H/CFH; this interaction mediates adhesion of neutrophils to pathogens leading to pathogen clearance.

    Three dimensional structures from OCA and Proteopedia for ITGAM Gene

    Alternative splice isoforms for ITGAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGAM Gene

Protein Expression for ITGAM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITGAM Gene

  • Glycosylation at Asn86, Asn240, Asn391, Asn469, Asn692, Asn696, Asn734, Asn801, Asn880, Asn900, Asn911, Asn940, Asn946, Asn978, Asn993, Asn1021, Asn1044, Asn1050, and Asn1075
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ITGAM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ITGAM

No data available for DME Specific Peptides for ITGAM Gene

Domains & Families for ITGAM Gene

Gene Families for ITGAM Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ITGAM Gene

InterPro:
Blocks:
  • Von Willebrand factor type A domain signature
  • Integrins alpha chain
  • Integrin alpha chain, C-terminal cytoplasmic region
  • FG-GAP

Suggested Antigen Peptide Sequences for ITGAM Gene

GenScript: Design optimal peptide antigens:
  • Neutrophil adherence receptor (ITAM_HUMAN)
  • Integrin, alpha M (Complement component 3 receptor 3 subunit) (Q4VAK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11215

UniProtKB/Swiss-Prot:

ITAM_HUMAN :
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
  • Belongs to the integrin alpha chain family.
Domain:
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGAM: view

Function for ITGAM Gene

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Molecular function for ITGAM Gene

UniProtKB/Swiss-Prot Function:
Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens (PubMed:9558116, PubMed:20008295). It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration (PubMed:28807980). In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). May regulate phagocytosis-induced apoptosis in extravasated neutrophils (By similarity). May play a role in mast cell development (By similarity). Required with TYROBP/DAP12 in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity).
GENATLAS Biochemistry:
integrin,alpha M,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,dimerizing with ITGB2 in vitronectin,fibrinogen,von Willebrand factor,thrombospondin,fibronectin,osteopontin,collagen

Phenotypes From GWAS Catalog for ITGAM Gene

Gene Ontology (GO) - Molecular Function for ITGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IC --
GO:0001851 complement component C3b binding ISS --
GO:0005178 integrin binding NAS 20199584
GO:0005515 protein binding IPI 12208882
GO:0031072 heat shock protein binding IPI 12496435
genes like me logo Genes that share ontologies with ITGAM: view
genes like me logo Genes that share phenotypes with ITGAM: view

Animal Models for ITGAM Gene

MGI Knock Outs for ITGAM:

Animal Models for research

  • Taconic Biosciences Mouse Models for ITGAM

miRNA for ITGAM Gene

miRTarBase miRNAs that target ITGAM

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGAM

Clone products for research

  • Addgene plasmids for ITGAM

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITGAM Gene

Localization for ITGAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGAM Gene

Cell membrane. Single-pass type I membrane protein. Membrane raft. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGAM gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
mitochondrion 3
nucleus 3
endosome 3
cytosol 3
lysosome 3
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ITGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 25645918
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex TAS 2563162
GO:0009897 external side of plasma membrane NAS 20199584
GO:0009986 cell surface IDA 19234460
genes like me logo Genes that share ontologies with ITGAM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGAM Gene

Pathways & Interactions for ITGAM Gene

PathCards logo

SuperPathways for ITGAM Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
Rap1 Pathway
.57
2 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
3 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Transendothelial Migration of Leukocytes
.38
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
CDC42 Pathway
.41
RhoA Pathway
.35
5 Focal Adhesion
Focal Adhesion
.61
Integrin-mediated Cell Adhesion
.38
HGF Pathway
.33
genes like me logo Genes that share pathways with ITGAM: view

Pathways by source for ITGAM Gene

4 GeneGo (Thomson Reuters) pathways for ITGAM Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
  • Immune response_Role of integrins in NK cells cytotoxicity
36 Qiagen pathways for ITGAM Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Agrin Interactions at Neuromuscular Junction
  • Akt Signaling
1 Cell Signaling Technology pathway for ITGAM Gene

SIGNOR curated interactions for ITGAM Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ITGAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001774 microglial cell activation ISS --
GO:0002376 immune system process IEA --
GO:0006898 receptor-mediated endocytosis ISS --
GO:0006911 phagocytosis, engulfment ISS --
GO:0007155 cell adhesion TAS 2563162
genes like me logo Genes that share ontologies with ITGAM: view

Drugs & Compounds for ITGAM Gene

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(60) Drugs for ITGAM Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Leukadherin 1 Pharma CD11b/CD18 activator 0

(57) Additional Compounds for ITGAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ITGAM Gene

Compound Action Cas Number
Leukadherin 1 CD11b/CD18 activator 344897-95-6
genes like me logo Genes that share compounds with ITGAM: view

Drug products for research

Transcripts for ITGAM Gene

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mRNA/cDNA for ITGAM Gene

2 REFSEQ mRNAs :
41 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ITGAM

Clone products for research

  • Addgene plasmids for ITGAM

Alternative Splicing Database (ASD) splice patterns (SP) for ITGAM Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - -

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
SP1: -
SP2: -
SP3:

Relevant External Links for ITGAM Gene

GeneLoc Exon Structure for
ITGAM

Expression for ITGAM Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ITGAM Gene

mRNA expression in normal human tissues for ITGAM Gene
mRNA expression by BioGPS for ITGAM GenemRNA expression by GTEx for ITGAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGAM Gene

This gene is overexpressed in Whole Blood (x31.3).

Protein differential expression in normal tissues from HIPED for ITGAM Gene

This gene is overexpressed in Neutrophil (31.4), Nasal epithelium (9.4), and Monocytes (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ITGAM Gene



Protein tissue co-expression partners for ITGAM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITGAM

SOURCE GeneReport for Unigene cluster for ITGAM Gene:

Hs.172631

mRNA Expression by UniProt/SwissProt for ITGAM Gene:

P11215-ITAM_HUMAN
Tissue specificity: Predominantly expressed in monocytes and granulocytes (PubMed:1346576). Expressed in neutrophils (at protein level) (PubMed:21193407).

Evidence on tissue expression from TISSUES for ITGAM Gene

  • Blood(4.9)
  • Liver(4.6)
  • Spleen(4.4)
  • Bone marrow(4.3)
  • Lung(4)
  • Lymph node(3.7)
  • Heart(3.5)
  • Intestine(3.4)
  • Nervous system(3.3)
  • Bone(2.8)
  • Skin(2.8)
  • Muscle(2.6)
  • Eye(2.6)
  • Kidney(2.6)
  • Pancreas(2.5)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGAM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • mouth
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ITGAM: view

Primer products for research

Orthologs for ITGAM Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGAM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ITGAM 29 30
  • 99.25 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ITGAM 29 30
  • 81.68 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ITGAM 29 30
  • 81.34 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Itgam 29 16 30
  • 78.61 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Itgam 29
  • 77.99 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 60 (a)
 ManyToMany
-- 30
  • 59 (a)
 ManyToMany
-- 30
  • 57 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 56 (a)
 ManyToMany
-- 30
  • 52 (a)
 ManyToMany
-- 30
  • 52 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 47 (a)
 ManyToMany
-- 30
  • 47 (a)
 ManyToMany
-- 30
  • 44 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia itgad 29
  • 52.48 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC101882585 29
  • 47.15 (n)
si:dkey-32n7.4 30
  • 36 (a)
 ManyToMany
Species where no ortholog for ITGAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ITGAM Gene

ENSEMBL:
Gene Tree for ITGAM (if available)
TreeFam:
Gene Tree for ITGAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITGAM: view image
Alliance of Genome Resources:
Additional Orthologs for ITGAM

Paralogs for ITGAM Gene

Paralogs for ITGAM Gene

(4) SIMAP similar genes for ITGAM Gene using alignment to 3 proteins:

  • ITAM_HUMAN
  • H3BMV4_HUMAN
  • I3NI33_HUMAN
genes like me logo Genes that share paralogs with ITGAM: view

Variants for ITGAM Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITGAM Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1000248 Uncertain Significance: not provided 31,275,624(+) G/A
NM_000632.4(ITGAM):c.934G>A (p.Val312Met) 		MISSENSE
1004612 Uncertain Significance: not provided 31,321,337(+) A/T
NM_000632.4(ITGAM):c.1804A>T (p.Thr602Ser) 		MISSENSE
1008973 Uncertain Significance: not provided 31,321,609(+) C/T
NM_000632.4(ITGAM):c.1984C>T (p.Arg662Trp) 		MISSENSE
1015761 Uncertain Significance: not provided 31,326,926(+) A/G
NM_000632.4(ITGAM):c.2699A>G (p.Asn900Ser) 		MISSENSE
1019309 Uncertain Significance: not provided 31,265,517(+) G/A
NM_000632.4(ITGAM):c.238+19G>A 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ITGAM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ITGAM Gene

Variant ID Type Subtype PubMed ID
dgv503e214 CNV gain 21293372
esv1039007 CNV deletion 17803354
esv2052288 CNV deletion 18987734
esv2436135 CNV deletion 19546169
esv2714193 CNV deletion 23290073
esv3553318 CNV deletion 23714750
esv3553319 CNV deletion 23714750
nsv1061980 CNV gain 25217958
nsv1071284 CNV deletion 25765185
nsv1111132 CNV tandem duplication 24896259
nsv1138424 CNV deletion 24896259
nsv953803 CNV deletion 24416366
nsv958208 CNV deletion 24416366

Variation tolerance for ITGAM Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.35; 81.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGAM Gene

Human Gene Mutation Database (HGMD)
ITGAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGAM
Leiden Open Variation Database (LOVD)
ITGAM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGAM Gene

Disorders for ITGAM Gene

MalaCards: The human disease database

(74) MalaCards diseases for ITGAM Gene - From: OMI, ORP, COP, and GCD

Disorder Aliases PubMed IDs
systemic lupus erythematosus 6
  • systemic lupus erythematosus, susceptibility to, 6
systemic lupus erythematosus
  • sle
shwartzman phenomenon
  • shwartzman reaction
lupus erythematosus
  • lupus
granulocytopenia
  • agranulocytosis
- elite association - COSMIC cancer census association via MalaCards
Search ITGAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITAM_HUMAN
  • Systemic lupus erythematosus 6 (SLEB6) [MIM:609939]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:18204446, ECO:0000269 PubMed:18204448}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Additional Disease Information for ITGAM

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No data available for Genatlas for ITGAM Gene

Publications for ITGAM Gene

  1. ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai. (PMID: 19286673) Yang W … Lau YL (Human molecular genetics 2009) 3 40 72
  2. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. (PMID: 18204448) Nath SK … Harley JB (Nature genetics 2008) 3 4 40
  3. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. (PMID: 18204446) International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN) … Kelly JA (Nature genetics 2008) 3 4 40
  4. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. (PMID: 18204098) Hom G … Behrens TW (The New England journal of medicine 2008) 3 22 40
  5. Haplotype analysis of the CD11 gene cluster in patients with chronic Helicobacter pylori infection and gastric ulcer disease. (PMID: 15730520) Hellmig S … Schreiber S (Tissue antigens 2005) 3 22 40

ExternalLinks

View latest publications for ITGAM gene in Mastermind

Products for ITGAM Gene

  • Addgene plasmids for ITGAM